Rare disorder motivates Rutgers student to help others

Since childhood Dena Winchester has lived with a fear of rejection stemming from the effects of a rare genetic disease. When she was in the sixth grade, just 11 years old, she was diagnosed with lipodystrophy, a disorder that stops the body from producing fat cells, making the individual appear skinny and gaunt. 

The disease “affected me mostly socially,” said Winchester, now a sophomore at Rutgers University. “I had a lot of body-image problems. My social life would have been a lot different if I had a ‘normal body.’” 

Sitting in the upstairs library at Rutgers Hillel on the New Brunswick campus, Winchester said she often felt that others considered her “weird” because she looked anorexic.

Now, however, the genetics major from Fair Lawn is facing those longstanding fears. She plans to be a genetic counselor and, as an intern for JScreen — a nonprofit associated with Emory University in Atlanta dedicated to raising awareness of and preventing Jewish genetic diseases — she helped set up a JScreen DNA testing session at Hillel on Feb. 8.

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As students entered the room and waited to be tested, Winchester told NJJN she is determined to learn everything she can about her own DNA in an effort to determine whether her gene mutation was random or if it was genetic and can be passed to her children. 

Winchester has her own blog, The Skinny Girl (myskinnystory.blogspot.mx), which has been viewed more than 50,000 times. She wrote on the blog that the work of a genetic counselor is, in a sense, similar to Google Translate, the popular tool that helps readers browse websites in foreign languages by translating the language into their own. Counselors, she said, “take the complicated language of molecular biology and transform it into a language that the basic humans can comprehend,” she wrote in one of her entries.

Initially misdiagnosed with type 2 diabetes, Winchester is being treated with leptin, a hormone her body does not produce naturally, and which she said works to make insulin function properly. 

Winchester told NJJN she is unsure whether her condition, which is rare and no more common among Jews than the general population, is genetic; she has no family history of lipodystrophy, and neither her sister nor brother has it. That’s not uncommon, according to JScreen national marketing and outreach director Hillary Kener, who was at Rutgers Hillel for the screening. She said that 80 percent of all babies born with a genetic disease don’t have a family history of the illness, either, and that two out of three Jews are carriers.

“The only way to know if you are a carrier is to have a kid or be screened,” Kener told NJJN, adding that in many cases couples don’t get screened until pregnancy, too late to take preventative measures to increase the chances of having a healthy baby.

As she handed out kits to the 52 Rutgers students who preregistered for the testing, Kener said JScreen has a partnership with Hillel International and holds college screenings across the country to provide young adults with information before they start a family. 

The process of screening DNA for 226 diseases, including those more common in Ashkenazi, Sephardi, and Mizrachi Jews than the rest of the population, is not particularly invasive, consisting mostly of depositing saliva in a tube to be tested. JScreen provides counseling even for those whose tests indicate they are not carriers, Kener said, to ensure they have a clear understanding of the results.

She said it was important that even interfaith couples be tested for diseases most common among Jews. One in 30 Ashkenazi Jews is a carrier of Tay-Sachs, a fatal illness that destroys the nervous systems of young children, but that number shrinks to one in 300 among the general population. Yet Kener said there was a recent case in which a baby with Tay-Sachs was born to an Asian woman and an Ashkenazi man. 

Through fundraising JScreen is able to reduce the $1,100 cost per test to $149, and it fully subsidizes the cost for college students. Individuals can also request that kits be sent to their homes. The cost of the Rutgers Hillel testing was underwritten by the National Gaucher Foundation; one in 12 Ashkenazi Jews is a carrier of Gaucher Disease, a genetic disorder that causes one’s organs to enlarge and can cause in various health problems. 

Some of the students who were tested told NJJN they understood the importance of arming themselves early with the knowledge that comes from genetic testing.

Said Amanda Newman, a sophomore from Paramus, “I knew I wanted to do this one day, and it’s here and free, so why not do it now?”